[P2-47] A Japanese boy with microcephaly-capillary malformation syndrome with intractable epilepsy
[Case] A Case is three-year-old Japanese boy who had no family history nor past history. He was born at gestational age 37 weeks; birth weight 2680g, height 48cm, head circumference 33cm. At six months, he was referred to our hospital because of developmental delay. At that time, clinical examination including chromosomal analysis and electroencephalogram did not reveal any abnormal findings. At seven months, he developed seizures of sudden motion arrest with cyanosis. Subsequently, his epileptic seizures became intractable. At two years, his height was 87.5cm (-2.5SD), body weight was 10.2kg (-1.6SD), and head circumference was 43.4cm (-3.5SD). There were many capillary malformations of which diameter was one to ten millimeter on skin. Head MRI revealed nonspecific diffuse cortical atrophy. At three years, his developmental delay was severe; lack of stable head control, no meaningful words and poor gaze following. Stereotypic movement with vocalization was seen continually during wakefulness, and tube feeding was sometimes needed. Whole-exome sequencing revealed homozygous mutations (c.C707T; p.Ser236Phe) in STAMBP, confirming the diagnosis of microcephaly-capillary malformation (MIC-CAP) syndrome. [Discussion] McDonell et al. reported that a STAMBP mutation caused MIC-CAP syndrome (MIM 614261, Nature Genet 2013), and our case is the first Asian patient. Previous reports showed that most MIC-CAP patients had cortical malformation. Our case had progressive cortical atrophy although no cortical malformation was present. When we see a patient with developmental delay, intractable epilepsy and capillary malformation on skin, he or she may have MIC-CAP syndrome and mutation study in STAMB is warranted. [Acknowledgement] We thank Dr. Fuyuki MIYA for performing whole-exome sequencing.